Lista de obras - Colin E. Willoughby - Dominio Público Uruguay

A COL17A1 Splice-Altering Mutation Is Prevalent in Inherited Recurrent Corneal Erosions

artículo científico publicado en 2016

A Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in COL10A1

scientific article published on 09 February 2019

A mutation in the Norrie disease gene (NDP) associated with familial exudative vitreoretinopathy.

artículo científico publicado en 2011

A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract.

artículo científico publicado en 2003

A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family

artículo científico publicado en 2014

A novel de novo missense mutation in TP63 underlying germline mosaicism in AEC syndrome: implications for recurrence risk and prenatal diagnosis

artículo científico publicado en 2012

Accurate, fast, data efficient and interpretable glaucoma diagnosis with automated spatial analysis of the whole cup to disc profile

artículo científico publicado en 2019

Amniotic band syndrome associated with an atypical iris and optic nerve defect

artículo científico publicado en 2013

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes ⬇️

scientific journal article

Angiographic and In Vivo Confocal Microscopic Characterization of Human Corneal Blood and Presumed Lymphatic Neovascularization: A Pilot Study.

artículo científico publicado en 2015

Assessment of the value of congenital hypertrophy of the retinal pigment epithelium as an ocular marker for familial adenomatous polyposis coli.

artículo científico

Association of Genetic Variation With Keratoconus

artículo científico publicado en 2019

Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus

artículo científico publicado en 2011

Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

artículo científico

Avoiding Complications Associated With Preloaded Ultrathin Descemet Stripping Automated Endothelial Keratoplasty

artículo científico publicado en 2017

Bandage contact lens and topical steroids are risk factors for the development of microbial keratitis after epithelium-off CXL

article

Bilateral keratoconus in tuberous sclerosis: is there a molecular link?

artículo científico publicado en 2012

CRYBB1 mutation associated with congenital cataract and microcornea

artículo científico publicado en 2005

CS gas ocular injury

scientific article published on 01 January 1998

Common mutations in Arg304 of the p63 gene in ectrodactyly, ectodermal dysplasia, clefting syndrome: lack of genotype-phenotype correlation and implications for mutation detection strategies

artículo científico publicado en 2002

Comparison of preservation and transportation protocols for preloaded Descemet membrane endothelial keratoplasty.

artículo científico publicado en 2017

Corneal angiography for guiding and evaluating fine-needle diathermy treatment of corneal neovascularization.

artículo científico publicado en 2015

Corneal biomechanics and biomechanically corrected intraocular pressure in primary open-angle glaucoma, ocular hypertension and controls

scientific article published on 28 March 2019

Corneal endothelial dysfunction in Pearson syndrome

artículo científico publicado en 2011

Correction of Mutant p63 in EEC Syndrome Using siRNA Mediated Allele-Specific Silencing Restores Defective Stem Cell Function.

artículo científico publicado en 2016

Correction: Accurate, fast, data efficient and interpretable glaucoma diagnosis with automated spatial analysis of the whole cup to disc profile

artículo científico publicado en 2019

Cross-Country Transportation Efficacy and Clinical Outcomes of Preloaded Large-Diameter Ultra-Thin Descemet Stripping Automated Endothelial Keratoplasty Grafts

artículo científico publicado en 2019

Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.

artículo científico publicado en 2018

Defining the pathogenicity of optineurin in juvenile open-angle glaucoma.

artículo científico publicado en 2004

Deformation velocity imaging using optical coherence tomography and its applications to the cornea

artículo científico publicado en 2017

Detecting Change in Conjunctival Hyperemia Using a Pixel Densitometry Index

artículo científico publicado en 2017

Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa

artículo científico publicado en 2010

Development of an allele-specific real-time PCR assay for discrimination and quantification of p63 R279H mutation in EEC syndrome.

artículo científico publicado en 2011

EEC (Ectrodactyly, Ectodermal dysplasia, Clefting) syndrome: heterozygous mutation in the p63 gene (R279H) and DNA-based prenatal diagnosis.

artículo científico publicado en 2002

Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus ⬇️

artículo científico publicado en 2014

Epstein-Barr virus (types 1 and 2) in the tear film in Sjogren's syndrome and HIV infection.

artículo científico publicado en 2002

Erratum: Corrigendum: Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections

article

Extended Overview of Ocular Phenotype with Recent Advances in Hypohidrotic Ectodermal Dysplasia

artículo científico publicado en 2022

Facilitating a close interaction between basic, translational and clinical science: BMJ Open Ophthalmology

artículo científico publicado en 2016

Femtosecond Laser-Assisted Lamellar Keratectomy for Corneal Opacities Secondary to Anterior Corneal Dystrophies: An Interventional Case Series

artículo científico publicado en 2015

Further evidence for heredity of pterygium

artículo científico publicado en 2016

Gene-based antiangiogenic applications for corneal neovascularization.

artículo científico publicado en 2017

Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome

artículo científico publicado en 2016

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus

artículo científico publicado en 2013

High resolution corneal and single pulse imaging with line field spectral domain optical coherence tomography

scientific article published on 01 May 2016

Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia

artículo científico publicado en 2014

Imaging of Corneal Neovascularization: Optical Coherence Tomography Angiography and Fluorescence Angiography

artículo científico publicado en 2018

Improving precision for detecting change in the shape of the cornea in patients with keratoconus

artículo científico publicado en 2018

In Vivo Early Corneal Biomechanical Changes After Corneal Cross-linking in Patients With Progressive Keratoconus.

artículo científico publicado en 2017

Infantile bilateral glaucoma in a child with ectodermal dysplasia.

artículo científico publicado en 2012

Influence of graft size on graft survival following Descemet stripping automated endothelial keratoplasty.

artículo científico publicado en 2015

Intraspecific variation and sexual dimorphism in cranial and dental variables among higher primates and their bearing on the hominid fossil record.

artículo científico publicado en 1991

Iris Flocculi as an ocular marker of ACTA2 mutation in familial thoracic aortic aneurysms and dissections

artículo científico publicado en 2013

Keratoconus in 18 pairs of twins.

artículo científico publicado en 2012

Lensectomy in the management of glaucoma in spherophakia

scientific article published on 01 June 2002

Limbal stem cell deficiency and ocular phenotype in ectrodactyly-ectodermal dysplasia-clefting syndrome caused by p63 mutations.

artículo científico publicado en 2011

Marginal corneal vascular arcades

artículo científico publicado en 2013

Method for Angiographically Guided Fine-Needle Diathermy in the Treatment of Corneal Neovascularization

artículo científico publicado en 2016

Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome

artículo científico publicado en 2002

Mitochondrial dysfunction and oxidative stress in corneal disease

artículo científico publicado en 2017

Mitochondrial dysfunction in glaucoma: understanding genetic influences.

artículo científico publicado en 2011

Modification of the tear function index and its use in the diagnosis of Sjögren's syndrome

artículo científico publicado en 2001

Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa.

artículo científico publicado en 2010

Monozygotic twins discordant for phacomatosis pigmentovascularis: evidence for the concept of twin spotting

artículo científico publicado en 2010

Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression

artículo científico publicado en 2020

Mutation altering the miR-184 seed region causes familial keratoconus with cataract

artículo científico publicado en 2011

Mutational Analysis of the Rhodopsin Gene in Sector Retinitis Pigmentosa

artículo científico publicado en 2014

Mutational analysis of MIR184 in sporadic keratoconus and myopia

artículo científico publicado en 2013

Mutational screening of VSX1 in keratoconus patients from the European population.

artículo científico publicado en 2009

Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation.

artículo científico publicado en 2013

Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.

artículo científico publicado en 2007

Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland

artículo científico publicado en 2014

Novel clinical features associated with Clouston syndrome

scientific article published on 05 June 2019

Ocular manifestations in oculodentodigital dysplasia resulting from a heterozygous missense mutation (L113P) in GJA1 (connexin 43)

scientific article published on 18 April 2008

Oral manifestations in a boy with X-linked reticulate pigmentary disorder.

artículo científico publicado en 2012

Outcome of Descemet stripping automated endothelial keratoplasty in eyes with an Ahmed glaucoma valve.

artículo científico publicado en 2017

Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia

article

Pitfalls in the management of a child with mild haemophilia A and a traumatic hyphaema.

artículo científico publicado en 2000

Preparation of ultrathin grafts for Descemet-stripping endothelial keratoplasty with a single microkeratome pass.

artículo científico publicado en 2017

Reliability of the Effect of Artificial Anterior Chamber Pressure and Corneal Drying on Corneal Graft Thickness

artículo científico publicado en 2015

Replication of the recessive STBMS1 locus but with dominant inheritance.

artículo científico publicado en 2009

Response to Iliff et?al.

artículo científico publicado en 2012

Simplifying collection of corneal specimens in cases of suspected bacterial keratitis.

artículo científico publicado en 2003

Targeting the NLRP3 Inflammasome in Glaucoma

artículo científico publicado en 2021

The Relationship Between Mechanical Properties, Ultrastructural Changes, and Intrafibrillar Bond Formation in Corneal UVA/Riboflavin Cross-linking Treatment for Keratoconus.

artículo científico publicado en 2018

The ocular phenotype of stiff-skin syndrome

artículo científico publicado en 2015

The presence of congenital hypertrophy of the retinal pigment epithelium in a subgroup of patients with adenomatous polyposis coli mutations

artículo científico publicado en 1998

Whole-mitochondrial genome sequencing in primary open-angle glaucoma using massively parallel sequencing identifies novel and known pathogenic variants.

artículo científico publicado en 2014

Lista de obras de Colin E. Willoughby

A COL17A1 Splice-Altering Mutation Is Prevalent in Inherited Recurrent Corneal Erosions

A Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in COL10A1

A mutation in the Norrie disease gene (NDP) associated with familial exudative vitreoretinopathy.

A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract.

A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family

A novel de novo missense mutation in TP63 underlying germline mosaicism in AEC syndrome: implications for recurrence risk and prenatal diagnosis

Accurate, fast, data efficient and interpretable glaucoma diagnosis with automated spatial analysis of the whole cup to disc profile

Amniotic band syndrome associated with an atypical iris and optic nerve defect

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes ⬇️

Angiographic and In Vivo Confocal Microscopic Characterization of Human Corneal Blood and Presumed Lymphatic Neovascularization: A Pilot Study.

Assessment of the value of congenital hypertrophy of the retinal pigment epithelium as an ocular marker for familial adenomatous polyposis coli.

Association of Genetic Variation With Keratoconus

Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus

Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

Avoiding Complications Associated With Preloaded Ultrathin Descemet Stripping Automated Endothelial Keratoplasty

Bandage contact lens and topical steroids are risk factors for the development of microbial keratitis after epithelium-off CXL

Bilateral keratoconus in tuberous sclerosis: is there a molecular link?

CRYBB1 mutation associated with congenital cataract and microcornea

CS gas ocular injury

Common mutations in Arg304 of the p63 gene in ectrodactyly, ectodermal dysplasia, clefting syndrome: lack of genotype-phenotype correlation and implications for mutation detection strategies

Comparison of preservation and transportation protocols for preloaded Descemet membrane endothelial keratoplasty.

Corneal angiography for guiding and evaluating fine-needle diathermy treatment of corneal neovascularization.

Corneal biomechanics and biomechanically corrected intraocular pressure in primary open-angle glaucoma, ocular hypertension and controls

Corneal endothelial dysfunction in Pearson syndrome

Correction of Mutant p63 in EEC Syndrome Using siRNA Mediated Allele-Specific Silencing Restores Defective Stem Cell Function.

Correction: Accurate, fast, data efficient and interpretable glaucoma diagnosis with automated spatial analysis of the whole cup to disc profile

Cross-Country Transportation Efficacy and Clinical Outcomes of Preloaded Large-Diameter Ultra-Thin Descemet Stripping Automated Endothelial Keratoplasty Grafts

Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.

Defining the pathogenicity of optineurin in juvenile open-angle glaucoma.

Deformation velocity imaging using optical coherence tomography and its applications to the cornea

Detecting Change in Conjunctival Hyperemia Using a Pixel Densitometry Index

Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa

Development of an allele-specific real-time PCR assay for discrimination and quantification of p63 R279H mutation in EEC syndrome.

EEC (Ectrodactyly, Ectodermal dysplasia, Clefting) syndrome: heterozygous mutation in the p63 gene (R279H) and DNA-based prenatal diagnosis.

Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus ⬇️

Epstein-Barr virus (types 1 and 2) in the tear film in Sjogren's syndrome and HIV infection.

Erratum: Corrigendum: Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections

Extended Overview of Ocular Phenotype with Recent Advances in Hypohidrotic Ectodermal Dysplasia

Facilitating a close interaction between basic, translational and clinical science: BMJ Open Ophthalmology

Femtosecond Laser-Assisted Lamellar Keratectomy for Corneal Opacities Secondary to Anterior Corneal Dystrophies: An Interventional Case Series

Further evidence for heredity of pterygium

Gene-based antiangiogenic applications for corneal neovascularization.

Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus

High resolution corneal and single pulse imaging with line field spectral domain optical coherence tomography

Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia

Imaging of Corneal Neovascularization: Optical Coherence Tomography Angiography and Fluorescence Angiography

Improving precision for detecting change in the shape of the cornea in patients with keratoconus

In Vivo Early Corneal Biomechanical Changes After Corneal Cross-linking in Patients With Progressive Keratoconus.

Infantile bilateral glaucoma in a child with ectodermal dysplasia.

Influence of graft size on graft survival following Descemet stripping automated endothelial keratoplasty.

Intraspecific variation and sexual dimorphism in cranial and dental variables among higher primates and their bearing on the hominid fossil record.

Iris Flocculi as an ocular marker of ACTA2 mutation in familial thoracic aortic aneurysms and dissections

Keratoconus in 18 pairs of twins.

Lensectomy in the management of glaucoma in spherophakia

Limbal stem cell deficiency and ocular phenotype in ectrodactyly-ectodermal dysplasia-clefting syndrome caused by p63 mutations.

Marginal corneal vascular arcades

Method for Angiographically Guided Fine-Needle Diathermy in the Treatment of Corneal Neovascularization

Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome

Mitochondrial dysfunction and oxidative stress in corneal disease

Mitochondrial dysfunction in glaucoma: understanding genetic influences.

Modification of the tear function index and its use in the diagnosis of Sjögren's syndrome

Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa.

Monozygotic twins discordant for phacomatosis pigmentovascularis: evidence for the concept of twin spotting

Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression

Mutation altering the miR-184 seed region causes familial keratoconus with cataract

Mutational Analysis of the Rhodopsin Gene in Sector Retinitis Pigmentosa

Mutational analysis of MIR184 in sporadic keratoconus and myopia

Mutational screening of VSX1 in keratoconus patients from the European population.

Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation.

Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.

Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland

Novel clinical features associated with Clouston syndrome

Ocular manifestations in oculodentodigital dysplasia resulting from a heterozygous missense mutation (L113P) in GJA1 (connexin 43)

Oral manifestations in a boy with X-linked reticulate pigmentary disorder.

Outcome of Descemet stripping automated endothelial keratoplasty in eyes with an Ahmed glaucoma valve.

Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia

Pitfalls in the management of a child with mild haemophilia A and a traumatic hyphaema.

Preparation of ultrathin grafts for Descemet-stripping endothelial keratoplasty with a single microkeratome pass.